3p deletion syndrome

Epidemiology

rare

Genetics

• loss of telomeric portion of short arm of chromosome 3
• associated with defects in CNTN4
• associated with defects in CHL1

Clinical manifestations

• developmental delay
• growth retardation
• dysmorphic features
• mental retardation may be due to loss of CHL1

More general terms

• congenital anomaly (birth defect)
• chromosome deletion syndrome

Additional terms

• CHL1
• contactin-4; brain-derived immunoglobulin superfamily protein 2; BIG-2 (CNTN4)
• protein hairless; lysine-specific demethylase hairless (HR)